@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v3.0.0/void/> .

dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_head {
  this: np:hasAssertion dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_assertion;
    np:hasProvenance dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_provenance;
    np:hasPublicationInfo dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_assertion a np:Assertion .
  
  dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_provenance a np:Provenance .
  
  dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_assertion {
  miriam-gene:723961 a ncit:C16612 .
  
  lld:C0265344 a ncit:C7057 .
  
  dgn-gda:DGN57ac35f968d3e885c18fb45e0d0adbd8 sio:SIO_000628 miriam-gene:723961, lld:C0265344;
    a sio:SIO_001121 .
}

dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_provenance {
  dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_assertion dcterms:description
      "[Homozygous or compound heterozygous mutations within the insulin binding domain of the human insulin receptor (INSR) are usually associated with severe impairment of insulin binding leading to Donohue syndrome ('Leprechaunism'), which is characterized by excessive hyperglycemia with hyperinsulinism, pre- and postnatal growth retardation, distinct dysmorphism and early death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
    sio:SIO_000772 miriam-pubmed:18411068;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date .
  
  dgn-void:source_evidence_literature a eco:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP1007771.RAK8ACmWzbtmFzkUhHeC5kDcBkk3F0x-XI-LJ4KtzhlRQ130_publicationInfo {
  this: dcterms:created "2015-08-25T14:48:04+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetv3.0rdf;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}